Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

Card image cap
Dublin, Ireland; 18-20 September 2014. Further information

Poster Category 2

Adrenals & HP Axis

hrp0082p2-d1-257 | Adrenals & HP Axis | ESPE2014

Growth Pattern in Infants with Congenital Adrenal Hyperplasia During the First Year of Life

Elsedfy Heba , Hamza Rasha

Background/aims: Several studies demonstrated rapid growth during the first year of life in infants with congenital adrenal hyperplasia (CAH) which has a considerable effect on final adult height. Whether decreased height potential is caused by inadequate suppression of adrenal androgens, excess steroid therapy or salt wasting itself is a matter of debate. Thus, we aimed to analyze growth pattern in infants with CAH during first year of life and the effect of therapy on those ...

hrp0082p2-d1-258 | Adrenals & HP Axis | ESPE2014

ACTH and Cortisol Levels are Associated with Cardiovascular Risk in Pediatric Obesity: a Cross-Sectional Study in China

Liang Jianfeng , Fu Junfen , Wang Jinling , Jiang Youjun , Dong Guanping

Background: The hypothalamic–pituitary–adrenal (HPA) axis, and cortisol in particular, has been reported to be involved in obesity-associated metabolic disturbances in adults and in specific populations of adolescents.Objective and hypotheses: To investigate the associations between serum ACTH and cortisol levels and cardiovascular risk factors in obese children and adolescents.Method: Of 1119 obese children and adolescen...

hrp0082p2-d1-259 | Adrenals & HP Axis | ESPE2014

Inadequate Cortisol Response to Tetracosactide (Synacthen®) Test in NCCAH Patients, an Exception to the Rule?

Stoupa Athanasia , Briceno Laura Gonzalez , Pinto Graziella , Samara-Boustani Dinane , Flechtner Isabelle , Thalassinos Caroline , Bidet Maud , Simon Albane , Morel Yves , Bellanne-Chantelot Christine , Touraine Philippe , Polak Michel

Background: Non-classical congenital adrenal hyperplasia (NCCAH) may present during childhood, adolescence or even adulthood with various degrees of hyperandrogenism. Diagnosis is established through tetracosactide (Synacthen®) test and genotyping. Cortisol insufficiency has rarely been described in NCCAH.Objective and hypotheses: To describe cortisol response to tetracosactide test in NCCAH patients.Method: Retrosp...

hrp0082p2-d1-260 | Adrenals & HP Axis | ESPE2014

Genotype–phenotype Non-Concordance: How Prevalent is it? How to Explain it

Khattab Ahmed , Yau Mabel , New Maria

Background: The rate of direct genotype–phenotype correlation in 21 hydroxylase deficiency congenital adrenal hyperplasia (CAH) is <50%. We report two cases of genotype/phenotype non-concordance, which has been explained by gene sequencing.Family 1: in a non-consanguineous family of Irish, German, and Italian ethnicity there are five children. Two of the boys have hormonal evidence of CAH owing to 21-hydroxylase deficiency. The third boy has no ...

hrp0082p2-d1-261 | Adrenals &amp; HP Axis | ESPE2014

Paradoxical Increase in Urinay Cortisol Excretion in Children with Primary Pigmented Nodular Adrenal Disease

Fraga Ana Beatriz , Anselmo Joao , Franco Catarina , Vaz Sara , Gomes Fernanda

Background: Pediatric Cushings syndrome is a rare condition and its diagnosis is always a challenge to the clinicians. The hypercortisolism can be classified as ACTH-dependent (Cushings disease) and ACTH-independent. The latter group comprises several hereditary conditions. One of them is primary pigmented nodular adrenocortical disease (PPNAD) which occurs isolated or as part of Carney complex (CNC). It is known that adult patients with Cushings syndrome due PPNAD exhibited a...

hrp0082p2-d1-262 | Adrenals &amp; HP Axis | ESPE2014

Mutation Spectrum of CYP11B1 Gene in Turkish Patients with 11β-hydroxylase Deficiency

Kandemir Nurgun , Yilmaz Didem Yucel , Gonc E Nazli , Ozon Z Alev , Alikasifoglu Ayfer , Dursun Ali , Ozgul R Koksal

Background: Deficiency of 11β-hydroxylase is the second most frequent type of congenital adrenal hyperplasia and more common in Turkey than other populations.Objective and hypotheses: The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish population.Method: 17 patients from 13 families are included in this study. Diagnosis was based on virilisation and high levels of 11-deoxycortisol. 15 case...

hrp0082p2-d1-263 | Adrenals &amp; HP Axis | ESPE2014

Genotype and Phenotype Characteristics of Patients with Nonclassical Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

Tombalak Nese Akcan , Uyguner Oya , Toksoy Guven , Karakilic Esin , Aydin Banu , Bas Firdevs , Saka Nurcin , Poyrazoglu Sukran , Bundak Ruveyde , Kayserili Hulya , Darendeliler Feyza

Background: Nonclassical congenital adrenal hyperplasia (NCAH), which is generally presented with symptoms of androgen excess, is inherited autosomal recessive due to different kind of mutations in the CYP21A2. Recently, high frequency of copy number variations at CYP21A2 gene and predisposition of heterozygous duplicated CYP21A2 for de novo gene aberrations has been reported.Objective and hypotheses: To evaluate clini...

hrp0082p2-d1-264 | Adrenals &amp; HP Axis | ESPE2014

LC–MSMS Profiling of Plasma Steroids in Different Types of Congenital Adrenal Hyperplasia

Kulle Alexandra E. , Reinehr Thomas , Akkurt Halit Ilker , Commentz Christian , Heger Sabine , Simic-Schleicher Gunter , Welzel Maik , Hornig Nadine C. , Holterhus Paul-Martin

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders which lead to impairment of steroid biosynthesis in the adrenals and gonads. 21-hydroxylase deficiency (21OHD) is the most common form of CAH (95%), followed by 11β-hydroxylase deficiency (11OHD) and 3β-dehydrogenase steroid dehydrogenase type 2 deficiency (3bHSD2). LC–MSMS based steroid analysis has become an increasingly important method for steroid analyses i...

hrp0082p2-d1-265 | Adrenals &amp; HP Axis | ESPE2014

Two Brothers with Late Onset Apparent Mineralocorticoid Excess

Morandi Grazia , Maines Evelina , Malesani Francesca , Cavarzere Paolo , Gaudino Rossella , Antoniazzi Franco

Background: Apparent mineralocorticoid excess (AME) is a rare congenital autosomal recessive disorder resulting from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11-β-hydroxysteroid dehydrogenase type 2, inactivating circulating cortisol to the less-active metabolite cortisone. Less than 100 cases of AME have been reported in the literature so far. Affected individuals have elevated renal concentrations of cortisol, which can cross-react and activate...

hrp0082p2-d1-266 | Adrenals &amp; HP Axis | ESPE2014

Is Basal 17-Hydroxyprogesterone a Sensitive Marker for Diagnosis of Non-Classical Congenital Adrenal Hyperplasia?

Bello Rachel , Lebenthal Yael , Phillip Moshe , de Vries Liat

Background: A basal 17-hydroxyprogesterone (17-OHP) plasma level of 6.0 nmol/l was suggested as a threshold for the diagnosis of non-classical congenital adrenal hyperplasia (NCCAH), particularly in children presenting with precocious pubarche (PP).Objective: The present study aimed to determine if this threshold could lead to underdiagnosis of NCCAH.Method: In a retrospective study the cohort of pediatric patients (n=145,...

hrp0082p2-d1-267 | Adrenals &amp; HP Axis | ESPE2014

An adolescent with Hypertension Caused by Primary Hyperaldosteronism due to KCNJ5 Mutation

van der Linde Annelieke , Deinum Jaap , Konijnenberg Yvette , Keijzer-Veen Mandy , Claahsen-van der Grinten Hedi

Background: Primary aldosteronism (PA) is a rare form of secondary hypertension. In adults PA is often caused by unilateral adrenal adenoma which can be cured by unilateral adrenalectomy. However, in young patients hereditary causes of PA have to be considered with bilaterally affected adrenal glands.Objective and hypotheses: We report on an adolescent with PA due to a recently described KCNJ5 mutation and want to point out the importance of performing m...

hrp0082p2-d1-268 | Adrenals &amp; HP Axis | ESPE2014

Analysis of Prospective Annual ACTH Stimulation Testing Among Survivors of Intracranial Tumor

Golekoh Marjorie , Mantravadi Manasa , Hornung Lindsey , Khoury Jane , Fouladi Maryam , Rose Susan , Lawson Sarah

Background: ACTH deficiency (ACTHD) is a potentially life-threatening condition observed in many childhood survivors of intracranial. Time from tumor diagnosis and therapy to development of ACTHD cannot be ascertained from previous studies. This lack of knowledge has led to annual surveillance using low-dose ACTH stimulation testing (LDST) for 10–15 years following completion of therapy.Objective and hypotheses: To identify the incidence and timing ...

hrp0082p2-d1-269 | Adrenals &amp; HP Axis | ESPE2014

Congenital Adrenal Hyperplasia Caused by 11β-hydroxylase-Deficiency as a Rare Differential Diagnosis of Precocious Pseudo-Puberty and Hypertension

Yakovenko Vira , Simon Anke , Schulze Egbert , Grulich-Henn Jurgen , Bettendorf Markus

Background: 11β-hydroxylase deficiency (HD) represents a rare cause of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency and excess of mineralcorticoids and androgens. The CYP11B1 gene on chromosome 8q22 encodes the 11β-hydroxylase.Objective: To report clinical, biochemical and molecular features of patients with 11β-HD.Results: Four male patients of Turkish descent with 11β-HD incl...